GTPBP3

GTP binding protein 3, mitochondrial
OMIM: 608536, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green GTPBP3 in Mendeliome Version 1.2302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 23 MIM#616198
Green GTPBP3 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Combined oxidative phosphorylation deficiency 23, MIM#616198
Green GTPBP3 in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 23, MIM#616198
Green GTPBP3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Combined oxidative phosphorylation deficiency 23, MIM#616198
Green GTPBP3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 23, 616198 (3)
Green GTPBP3 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.196	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Combined oxidative phosphorylation deficiency 23 MIM#616198
Green GTPBP3 in Fetal anomalies Version 1.313	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 23 MIM#616198
Green GTPBP3 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 23, 616198 (3)